Mammalian mitochondrial ribosomal small subunit (MRPS) genes: A putative role in human disease

Gene. 2016 Sep 1;589(1):27-35. doi: 10.1016/j.gene.2016.05.008. Epub 2016 May 8.

Abstract

Mitochondria are prominently understood as power houses producing ATP the primary energy currency of the cell. However, mitochondria are also known to play an important role in apoptosis and autophagy, and mitochondrial dysregulation can lead to pathological outcomes. Mitochondria are known to contain 1500 proteins of which only 13 are coded by mitochondrial DNA and the rest are coded by nuclear genes. Protein synthesis in mitochondria involves mitochondrial ribosomes which are 55-60S particles and are composed of small 28S and large 39S subunits. A feature of mammalian mitoribosome which differentiate it from bacterial ribosomes is the increased protein content. The human mitochondrial ribosomal protein (MRP) gene family comprises of 30 genes which code for mitochondrial ribosomal small subunit and 50 genes for the large subunit. The present review focuses on the mitochondrial ribosomal small subunit genes (MRPS), presents an overview of the literature and data gleaned from publicly available gene and protein expression databases. The survey revealed aberrations in MRPS gene expression patterns in varied human diseases indicating a putative role in their etiology.

Keywords: Disease; Genes; Mitochondria; Ribosomes; Small subunit.

Publication types

  • Review

MeSH terms

  • Animals
  • Cardiovascular Diseases / genetics
  • Cardiovascular Diseases / metabolism
  • Cardiovascular Diseases / pathology
  • Gene Expression Regulation
  • Humans
  • Mammals
  • Mitochondria / genetics*
  • Mitochondria / metabolism
  • Mitochondria / pathology
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / metabolism
  • Mitochondrial Diseases / pathology
  • Mitochondrial Proteins / chemistry
  • Mitochondrial Proteins / genetics*
  • Mitochondrial Proteins / metabolism
  • Neoplasms / genetics
  • Neoplasms / metabolism
  • Neoplasms / pathology
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / metabolism
  • Neurodegenerative Diseases / pathology
  • Ribosomal Proteins / chemistry
  • Ribosomal Proteins / genetics*
  • Ribosomal Proteins / metabolism
  • Ribosome Subunits, Small, Eukaryotic / chemistry
  • Ribosome Subunits, Small, Eukaryotic / genetics*
  • Ribosome Subunits, Small, Eukaryotic / metabolism
  • Signal Transduction
  • Spondylitis, Ankylosing / genetics
  • Spondylitis, Ankylosing / metabolism
  • Spondylitis, Ankylosing / pathology

Substances

  • Mitochondrial Proteins
  • Ribosomal Proteins